Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease.

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作者信息

Murata Y, Kodama H, Mori Y, Kobayashi M, Abe T

机构信息

Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):199-202. doi: 10.1023/a:1005383114315.

DOI:10.1023/a:1005383114315

PMID:9686356

Abstract

摘要

相似文献

Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease.

J Inherit Metab Dis. 1998 Jun;21(3):199-202. doi: 10.1023/a:1005383114315.

Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease.门克斯病黄斑小鼠模型中斑驳基因的突变分析与表达

Pediatr Res. 1997 Oct;42(4):436-42. doi: 10.1203/00006450-199710000-00003.

Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease.从斑驳病的九个不同等位基因建立的细胞系中铜积累异常与门克斯病中发现的异常相同。

J Med Genet. 1997 Sep;34(9):729-32. doi: 10.1136/jmg.34.9.729.

Copper transport and its alterations in Menkes and Wilson diseases.铜转运及其在门克斯病和威尔逊病中的改变。

Biochim Biophys Acta. 1997 Feb 27;1360(1):3-16. doi: 10.1016/s0925-4439(96)00064-6.

The mottled gene is the mouse homologue of the Menkes disease gene.斑驳基因是门克斯病基因在小鼠中的同源基因。

Nat Genet. 1994 Apr;6(4):369-73. doi: 10.1038/ng0494-369.

Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters.小鼠斑驳基因和毒性乳基因的发育表达表明门克斯病和威尔逊病铜转运蛋白具有不同功能。

Hum Mol Genet. 1997 Jul;6(7):1043-9. doi: 10.1093/hmg/6.7.1043.

Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants.斑驳（Mo blo）和虎斑（Mo br）小鼠突变体细胞中，门克斯蛋白的小鼠同源物Mnk的细胞内定位及铜反应性丧失。

Hum Mol Genet. 1999 Jun;8(6):1069-75. doi: 10.1093/hmg/8.6.1069.

Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.通过表达门克斯病和威尔逊病ATP酶来纠正门克斯病患者成纤维细胞的铜转运缺陷。

J Biol Chem. 1998 Nov 20;273(47):31375-80. doi: 10.1074/jbc.273.47.31375.

Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse.斑驳小鼠Atp7a基因启动子区域的缺失。

Nat Genet. 1997 Jul;16(3):224-5. doi: 10.1038/ng0797-224.

Localization of Menkes gene expression in the mouse brain; its association with neurological manifestations in Menkes model mice.门克斯基因在小鼠大脑中的表达定位；及其与门克斯模型小鼠神经学表现的关联。

Acta Neuropathol. 1996;91(5):482-8. doi: 10.1007/s004010050455.

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Int J Mol Sci. 2022 Nov 10;23(22):13850. doi: 10.3390/ijms232213850.

Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.遗传性铜转运障碍：生化机制、诊断与治疗。

Curr Drug Metab. 2012 Mar;13(3):237-50. doi: 10.2174/138920012799320455.

Altered ATP7A expression and other compensatory responses in a murine model of Menkes disease.门克斯病小鼠模型中ATP7A表达的改变及其他代偿反应。

Neurobiol Dis. 2007 Sep;27(3):278-91. doi: 10.1016/j.nbd.2007.05.004. Epub 2007 May 23.

Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.斑驳小鼠门克斯病的表型多样性与ATP7A蛋白的定位和运输缺陷有关。

J Med Genet. 2007 Oct;44(10):641-6. doi: 10.1136/jmg.2007.049627. Epub 2007 May 4.

Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease.铜与二乙基二硫代氨基甲酸盐联合疗法对黄斑小鼠（一种门克斯病动物模型）的影响。

J Inherit Metab Dis. 2005;28(6):971-8. doi: 10.1007/s10545-005-0150-6.

本文引用的文献

Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease.门克斯病黄斑小鼠模型中斑驳基因的突变分析与表达

Pediatr Res. 1997 Oct;42(4):436-42. doi: 10.1203/00006450-199710000-00003.

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.门克斯病候选基因的分离及其编码铜转运ATP酶的证据。

Nat Genet. 1993 Jan;3(1):7-13. doi: 10.1038/ng0193-7.

Isolation of a partial candidate gene for Menkes disease by positional cloning.通过定位克隆分离门克斯病的部分候选基因。

Nat Genet. 1993 Jan;3(1):20-5. doi: 10.1038/ng0193-20.

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.分离出一种门克斯病的候选基因，该基因编码一种潜在的重金属结合蛋白。

Nat Genet. 1993 Jan;3(1):14-9. doi: 10.1038/ng0193-14.

Histochemical localization of copper in the intestine and kidney of macular mice: light and electron microscopic study.

J Histochem Cytochem. 1993 Oct;41(10):1529-35. doi: 10.1177/41.10.8245411.

The mottled gene is the mouse homologue of the Menkes disease gene.斑驳基因是门克斯病基因在小鼠中的同源基因。

Nat Genet. 1994 Apr;6(4):369-73. doi: 10.1038/ng0494-369.

Histochemical localization of copper in various organs of brindled mice after copper therapy.

Pathol Int. 1995 Jan;45(1):10-8. doi: 10.1111/j.1440-1827.1995.tb03374.x.

Genetic expression of Menkes disease in cultured astrocytes of the macular mouse.

J Inherit Metab Dis. 1991;14(6):896-901. doi: 10.1007/BF01800470.

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